LP19751-4
OTC gene
Active
Description
The OTC gene (ornithine carbamoyltransferase) [HGNC Gene ID:8512] is located on chromosome Xp21.1. This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5009] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- OTC gene
- Part Display Name
- OTC gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- OTC gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | OTC 基因 Synonyms: OTC 缺乏病; |
| et-EE | Estonian (Estonia) | OTC geen |
| es-ES | Spanish (Spain) | Gen OTC |
| it-IT | Italian (Italy) | OTC, gene Synonyms: Gene OTC |
| tr-TR | Turkish (Turkey) | OTC geni |
| ru-RU | Russian (Russian Federation) | OTC ген |
| nl-NL | Dutch (Netherlands) | OTC-gen Synonyms: OTC gen |
| fr-FR | French (France) | OTC gène |
| pl-PL | Polish (Poland) | OTC gen Synonyms: Gen OTC |
| el-GR | Greek (Greece) | Γονίδιο OTC Synonyms: Γονίδιο OTC |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://